Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

doi:10.1016/j.thromres.2016.08.009

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Article

Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

Thrombosis research - 1 Sept 2016

White-Adams Tara C, Ng Christopher J, Jacobi Paula M, Haberichter Sandra L, Di Paola Jorge A

Abstract excerpt

Type 1 von Willebrand disease (VWD) is characterized by low plasma levels of von Willebrand factor (VWF) and clinical bleeding. Several mechanisms have been described that cause a decrease in plasma VWF levels in VWD, and the goal of this study was to elucidate the pathogenic origins of VWD for a group of mutations in the VWF D'D3 region traditionally associated with type 1 VWD. Varying ratios of...

Topics

Humans
Mutation
von Willebrand Diseases
von Willebrand Factor

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PMID: 27533707
DOI: 10.1016/j.thromres.2016.08.009
PMCID: PMC5951169

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